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伴有基底节钙化的假性甲状旁腺功能减退症:一例可逆性帕金森病罕见病因的病例报告

Pseudohypoparathyroidism with basal ganglia calcification: A case report of rare cause of reversible parkinsonism.

作者信息

Song Cheng-Yuan, Zhao Zhen-Xiang, Li Wei, Sun Cong-Cong, Liu Yi-Ming

机构信息

Department of Neurology, Qilu Hospital of Shandong University, Jinan, China.

出版信息

Medicine (Baltimore). 2017 Mar;96(11):e6312. doi: 10.1097/MD.0000000000006312.

DOI:10.1097/MD.0000000000006312
PMID:28296742
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5369897/
Abstract

RATIONALE

Parkinsonism can be secondary to many internal diseases, in some certain conditions, it seems that the clinical manifestations of parkinsonism presenting reversible. We report a case of patient with parkinsonism secondary to pseudohypoparathyroidism, who improved markedly after the supplement of serum calcium.

PATIENT CONCERNS AND DIAGNOSES

A 52-year-old woman with acute parkinsonism was diagnosed as pseudohypoparathyroidism after the conducting of brain computed tomography, laboratory examinations, and gene detection. The son of the patient was also examined and was diagnosed as pseudohypoparathyroidism, who had ever complained of the history of epilepsy. The clinical manifestations of parkinsonism of the patient was reevaluated after the supplement of serum calcium according to the diagnosis.

INTERVENTIONS AND OUTCOMES

The brain computed tomography revealed the basal ganglia calcification of the patient, accompanying by serum hypocalcemia and hyperphosphatemia. Loss of function mutation also confirmed the diagnosis. Five days after the therapy targeting at correction of serum hypocalcemia, the patient improved greatly in dyskinesia.

LESSONS

This study reported a patient presenting as acute reversible parkinsonism, who was finally diagnosed as pseudohypoparathyroidism. It indicated us that secondary parkinsonism should be carefully differentiated for its dramatic treatment effect. And the family history of seizures might be an indicator for the consideration of pseudohypoparathyroidism.

摘要

理论依据

帕金森综合征可能继发于多种内科疾病,在某些特定情况下,帕金森综合征的临床表现似乎是可逆的。我们报告一例继发于假性甲状旁腺功能减退症的帕金森综合征患者,补充血清钙后病情明显改善。

患者情况与诊断

一名52岁急性帕金森综合征女性患者,经头颅计算机断层扫描、实验室检查及基因检测后被诊断为假性甲状旁腺功能减退症。患者之子也接受了检查,被诊断为假性甲状旁腺功能减退症,其曾有癫痫病史。根据诊断补充血清钙后对患者帕金森综合征的临床表现进行了重新评估。

干预措施与结果

头颅计算机断层扫描显示患者基底节钙化,伴有血清低钙血症和高磷血症。功能丧失突变也证实了诊断。针对血清低钙血症进行治疗5天后,患者的运动障碍有了很大改善。

经验教训

本研究报告了一名表现为急性可逆性帕金森综合征的患者,最终被诊断为假性甲状旁腺功能减退症。这提示我们,由于继发性帕金森综合征的治疗效果显著,应仔细鉴别。癫痫家族史可能是考虑假性甲状旁腺功能减退症的一个指标。

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本文引用的文献

1
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J Clin Endocrinol Metab. 2016 Oct;101(10):3657-3668. doi: 10.1210/jc.2015-4310. Epub 2016 Jul 18.
2
Genetics Underlying Atypical Parkinsonism and Related Neurodegenerative Disorders.非典型帕金森病及相关神经退行性疾病的遗传学基础
Int J Mol Sci. 2015 Oct 16;16(10):24629-55. doi: 10.3390/ijms161024629.
3
MDS clinical diagnostic criteria for Parkinson's disease.
奥尔布赖特遗传性骨营养不良:由于医疗服务受限导致一种罕见疾病的诊断延迟。
Clin Case Rep. 2023 Jan 16;11(1):e6841. doi: 10.1002/ccr3.6841. eCollection 2023 Jan.
4
A Rare Cause of a Treatable Abnormal Movement, Not to Miss.一种可治疗的异常运动的罕见病因,不容错过。
Mov Disord Clin Pract. 2022 Sep 11;9(Suppl 2):S13-S16. doi: 10.1002/mdc3.13541. eCollection 2022 Sep.
5
Hypoparathyroidism Masquerading as Corticobasal Syndrome.伪装成皮质基底节综合征的甲状旁腺功能减退症。
Mov Disord Clin Pract. 2021 Apr 3;8(4):600-603. doi: 10.1002/mdc3.13182. eCollection 2021 May.
6
A patient with extensive cerebral calcification due to pseudohypoparathyroidism: a case report.一位患有假性甲状旁腺功能减退症所致广泛脑钙化的患者:病例报告。
BMC Endocr Disord. 2019 Dec 19;19(1):142. doi: 10.1186/s12902-019-0475-z.
7
Movement Disorders in Metabolic Disorders.代谢紊乱相关的运动障碍。
Curr Neurol Neurosci Rep. 2019 Feb 9;19(2):7. doi: 10.1007/s11910-019-0921-3.
8
Parkinson's Disease and Metal Storage Disorders: A Systematic Review.帕金森病与金属储存障碍:一项系统评价。
Brain Sci. 2018 Oct 31;8(11):194. doi: 10.3390/brainsci8110194.
帕金森病的MDS临床诊断标准。
Mov Disord. 2015 Oct;30(12):1591-601. doi: 10.1002/mds.26424.
4
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Lancet. 2015 May 2;385(9979):1802. doi: 10.1016/S0140-6736(15)60451-2.
5
Familial idiopathic basal ganglia calcification (Fahr`s disease).家族性特发性基底节钙化(法尔病)。
Neurosciences (Riyadh). 2014 Jul;19(3):171-7.
6
Clinical review: Pseudohypoparathyroidism: diagnosis and treatment.临床综述:假性甲状旁腺功能减退症:诊断与治疗。
J Clin Endocrinol Metab. 2011 Oct;96(10):3020-30. doi: 10.1210/jc.2011-1048. Epub 2011 Aug 3.
7
Strio-pallido-dentate calcinosis: a diagnostic approach in adult patients.纹状体苍白球齿状核钙质沉着症:成人患者的诊断方法。
Neurol Sci. 2011 Aug;32(4):537-45. doi: 10.1007/s10072-011-0514-7. Epub 2011 Apr 9.
8
Hypoparathyroidism and pseudohypoparathyroidism.甲状旁腺功能减退症和假性甲状旁腺功能减退症。
Arq Bras Endocrinol Metabol. 2006 Aug;50(4):664-73. doi: 10.1590/s0004-27302006000400012.
9
What is and what is not 'Fahr's disease'.何为“法尔病”以及何为非“法尔病”。
Parkinsonism Relat Disord. 2005 Mar;11(2):73-80. doi: 10.1016/j.parkreldis.2004.12.001.
10
Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification.假性甲状旁腺功能减退症,帕金森综合征,无基底节钙化。
J Neurol Neurosurg Psychiatry. 1988 May;51(5):709-13. doi: 10.1136/jnnp.51.5.709.